Read Stories or Comments

Awareness First Step Toward Treating Gaucher: article by TV Producer and Gaucher Patient, Mr. Michael Margolis

By Michael Margolis

Imagine that you are a doctor and a rare disease threatens your children’s lives. Your only hope is to find a treatment, or if necessary, create one yourself. Otherwise, your children will face a lifetime of pain and disability.

This scenario may sound like the plot to a movie, but it is the true story of the Berman family, a tale that began 30 years ago and continues to improve the lives of individuals born with a genetic disorder known as Gaucher disease.

The Berman family saga needs to be told because it brought hope to many persons who have inherited Gaucher disease, but a far larger number continue to suffer from the disorder and have yet to be properly diagnosed. Only greater awareness of Gaucher disease will bring these individuals closer to the treatment they need.

Personal Heroism Leads to Discovery

Dr. Robin Berman, a practicing physician, was alarmed when her son Brian’s abdomen was growing larger and his blood counts were abnormal. Brian was diagnosed with Gaucher disease, a genetic condition that strikes approximately one out of 500 people of Eastern and Central European Jewish ancestry and approximately one out of 100,000 in the general population.

The future for Dr. Berman’s bright young son was bleak. Brian’s spleen and liver would grow larger and larger, causing him to become dangerously anemic, prone to bleeding and extreme fatigue. The disease would also affect his bones; he would suffer bouts of debilitating pain and would be crippled.

Robin had no time to waste. She found hope at the National Institutes of Health, where Dr. Roscoe Brady had been studying the disease for decades. In fact, he had a treatment that theoretically might work.

“I stopped my medical practice and worked for them gratis. I wanted to do whatever I could to save my baby,” says Robin Berman. She also founded the National Gaucher Foundation. Her personal crusade took on more importance when she learned that her other son was also suffering from the disease.

Dr. Brady and his associates had discovered that Gaucher disease was caused by a lack of an enzyme. Without that enzyme, waste materials accumulated in the body’s cells. Brady’s proposed solution was to replace that enzyme.

A New Form of Therapy

In 1983, Brian became the first person to receive a modified, highly targeted enzyme replacement therapy developed by Dr. Roscoe Brady from the National Institutes of Health. Brian showed immediate improvement. With the help of the National Gaucher Foundation, the NIH conducted the clinical trials that led to FDA approval in 1991. Dr. Brady's pioneering work in Gaucher Disease has also lead to therapies for other lipid storage diseases.

Gaucher patients began to receive the treatment in 1992. It is administered as a bi-weekly infusion. It began to change lives. Those who were identified with the disease in their childhood were able to reverse many of the symptoms of the disease and were able to lead lives virtually unaffected by the disorder. Those who had been suffering for years found some reversal of symptoms. In many cases the course of the disease was halted and their lives improved.

The Need for Awareness

More than a thousand patients in the United States have been diagnosed and treated. However, perhaps 10 times that many Americans have the disease, and remain undiagnosed or misdiagnosed. That means children and adults with the disease are being needlessly disabled. This situation is caused simply by the fact that there is a lack of awareness of the disease in the general population, in the Jewish community and even in the medical field.

Gaucher disease is roughly as prevalent Hemophilia and Sickle Cell Anemia. Yet public awareness of those other diseases is high and it is rare that those who suffer with those disorders go undiagnosed.

At this moment, there are thousands of people who are in pain, traveling from doctor to doctor without a proper diagnosis. They may be suffering from “bone crisis” – a condition when a portion of the bones dies due to accumulation of Gaucher cells -- causing debilitating pain for weeks at a time and leaving permanent damage. Some will have their spleens removed unnecessarily. Some may die.

The National Gaucher Foundation declared September 2005 as “National Gaucher Disease Awareness Month" and plans to continue this tradition in 2006. Volunteers organized educational programs about Gaucher disease in communities across the United States throughout the month, in the hope that awareness would bring thousands who suffer from the disorder closer to proper diagnosis.

The Berman family is happy and grateful, but they feel they feel the need to bring Gaucher disease to the attention of those who suffer needlessly from the genetic disorder. So, they continue to take an active part in the Gaucher disease awareness effort.

“My son Brian is married and healthy with two beautiful children of his own.” says Robin Berman. “I feel God has put me in this place with the right resources and abilities to do this and there is still much work to do.

Michael Margolis, a Los Angeles-based television producer, is a Gaucher disease patient. He recently completed production of A Message to Elijah, a DVD presentation about the disorder, its impact on personal lives and its treatment. To obtain a copy of this DVD, contact the National Gaucher Foundation at www.gaucherdisease.org

Back to top